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. 2020 May 7;24(5):309–317. doi: 10.1089/gtmb.2019.0255

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© Paraskevi Chairta et al., 2020; Published by Mary Ann Liebert, Inc.

This Open Access article is distributed under the terms of the Creative Commons Attribution Noncommercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and the source are cited.

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FIG. 1. — Genotyping of eighteen SSc associated SNPs by RFLP, Sanger sequencing and multiplex SNaPshot minisequencing assay. (A) Genotyping of SNPs rs1341239 and rs3117230 using restriction enzymes ApoI and BsrBI, respectively. (B) Sanger sequencing results show a heterozygous genotype of SNPs rs12528892, rs132654, and rs2298428, respectively. (C) The first electropherogram shows the detection of the thirteen SNPs in a random sample. Four separate electropherograms are presented, according to the color of peak (ddNTP extension). Blue, green, black, and red-filled peaks correspond to the fluorescence signal of G, A, C and T alleles of detected SNP, respectively. Colored nonfilled solid peak indicates nonspecific allele; this is not associated with the genotype. Dotted peaks represent the position of the alternative allele in the cases of homozygous SNP results. SNP genotype of the selected sample is the following: rs1800896 (GA), rs3128930 (CT), rs1799724 (GG), rs1126579 (GG), rs344781 (AA), rs1799964 (AA), rs2430561 (AA), rs4898 (CC), rs3128965 (GG), rs1800890 (TT), rs6918698 (GC), rs7574865 (CA), rs9399005 (GG). RFLP, restriction fragment length polymorphism; SNPs, single nucleotide polymorphisms; SSc, systemic sclerosis.